Sickle cell disease (SCD) is an autosomal recessive disorder caused by a missense mutation in the HBB gene, which encodes the ß-subunit of adult hemoglobin. Now, recent insights into the regulatory mechanisms of red blood cell gene expression and emerging technologies to manipulate the genome are fueling innovative new therapies and potential cures for SCD.

Sickle cell disease in the lab

Discoveries made at St. Jude, in collaboration with investigators across the country, are rapidly advancing our appreciation for the nuances of gene editing, our understanding of the genomic regulatory landscape, and our capacity to implement new technologies in the therapeutic development pipeline. The insights gained from these studies hold the promise to transform the way we understand and treat sickle cell disease and other ß-hemoglobinopathies.

Deciphering the regulation of fetal hemoglobin

Researchers have long envisioned targeting the fetal to adult globin switch as a therapeutic approach for beta hemoglobinopathies. Dr. Mitch Weiss and colleagues mapped the fetal hemoglobin promoter, identifying regions for targeted disruption and demonstrating practical applications for SCD therapy.

Mapping the fetal hemoglobin gene regulatory landscape

St. Jude scientists have developed an integrated, high-throughput system to address a major challenge in biology - identifying, understanding, and manipulating the genetic switches that regulate gene expression.

Accelerating the therapeutic pipeline for SCD

A collaborative effort led by St. Jude scientists have advanced a new mechanism-based therapy using a nucleotide base editing tool with exquisite resolution. The results, published in Nature, offer the promise of a one-time treatment, and perhaps even cure, of sickle cell disease.

Sickle Cell Disease Data Portal

The Sickle Cell Disease Portal offers robust genomic and clinical data from cohorts of individuals with sickle cell disease. This data, offered on St. Jude Cloud, is easily and securely available to academic researchers. Genetic modifiers strongly influence outcomes in sickle cell disease. The goal of the Sickle Cell Disease Portal is to promote global collaborative efforts to understand the genetic underpinnings of the disease and develop better therapies.

Sickle cell disease in the clinic

Doctors and researchers work together to learn how to best treat children and manage their sickle cell disease, including sickle cell anemia and other disorders. Bridging the gap between treatment and research, St. Jude scientists are conducting a study to help uncover insights into the long-term effects of sickle cell disease, including sickle cell anemia and other disorders. In addition, St. Jude will sequence the genomes of 1,000 children with sickle cell disease to understand why some patients experience more severe symptoms.

More information

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Virtual reality: A distraction from sickle cell pain

St. Jude explores virtual reality as a distraction technique for children and teens undergoing the pain crises of sickle cell disease.

The Future Starts Now
The future starts now

When it comes to sickle cell disease, St. Jude researchers have their sights set on the future.

Sickle Cell Disease: A Hospital's Commitment
Sickle cell disease: A hospital's commitment

St. Jude enhances its sickle cell program to look beyond symptom relief to a cure.